Submissions for variant NM_000342.3(SLC4A1):c.-62G>A

gnomAD frequency: 0.00002  dbSNP: rs387906565

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001125830	SCV001284950	uncertain significance	Hemolytic anemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV000019331	SCV001284951	uncertain significance	Hereditary spherocytosis type 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001125831	SCV001284952	uncertain significance	Autosomal dominant distal renal tubular acidosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics	RCV002482888	SCV002776679	uncertain significance	BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to	2022-03-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002513119	SCV003443200	uncertain significance	not provided	2024-08-28	criteria provided, single submitter	clinical testing	This variant occurs in a non-coding region of the SLC4A1 gene. It does not change the encoded amino acid sequence of the SLC4A1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with spherocytosis (PMID: 8704215). This variant is also known as a G -> A substitution at position 89 from the cap site in the 5'-untranslated region or allele Genas. ClinVar contains an entry for this variant (Variation ID: 17754). Studies have shown that this variant alters SLC4A1 gene expression (PMID: 8704215). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity	RCV002513119	SCV003821432	uncertain significance	not provided	2022-09-08	criteria provided, single submitter	clinical testing
OMIM	RCV000019331	SCV000039621	pathogenic	Hereditary spherocytosis type 4	1996-08-01	no assertion criteria provided	literature only