ClinVar Miner

Submissions for variant NM_017827.4(SARS2):c.448G>A (p.Val150Ile)

gnomAD frequency: 0.00013  dbSNP: rs143847153
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001130961 SCV001290556 uncertain significance Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV001130961 SCV002781979 uncertain significance Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 2022-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032286 SCV003679661 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing The c.448G>A (p.V150I) alteration is located in exon 4 (coding exon 4) of the SARS2 gene. This alteration results from a G to A substitution at nucleotide position 448, causing the valine (V) at amino acid position 150 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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