ClinVar Miner

Submissions for variant NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470310 SCV002767057 uncertain significance Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 2020-05-26 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v0.6.1, this variant is classified as a 3B-VUS. Following criteria are met: 0102 - Loss of function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from a phenylalanine to a tyrosine (exon 23). (N) 0304 - Variant is present in gnomAD <0.01 for recessive indication (18 heterozygotes, 0 homozygotes). (P) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (N) 0600 - Variant is located in an annotated domain or motif that does not have a well established function (linker region of a spectrin repeat). (N) 0705 - No comparable variants in relevant codon/region have previous evidence for pathogenicity. (N) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No published segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
Labcorp Genetics (formerly Invitae), Labcorp RCV002573627 SCV003246136 likely benign not provided 2021-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965882 SCV005508651 uncertain significance Inborn genetic diseases 2024-09-03 criteria provided, single submitter clinical testing The c.4862T>A (p.F1621Y) alteration is located in exon 23 (coding exon 22) of the SPTBN4 gene. This alteration results from a T to A substitution at nucleotide position 4862, causing the phenylalanine (F) at amino acid position 1621 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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