ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.928G>A (p.Asp310Asn) (rs763972372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672110 SCV000797176 likely pathogenic Finnish congenital nephrotic syndrome 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000821998 SCV000962775 pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 310 of the NPHS1 protein (p.Asp310Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs763972372, ExAC 0.03%). This variant has been observed to segregate with nephrotic syndrome in a family and have been found in trans with pathogenic variants in NPHS1 in several individuals affected with this condition (PMID: 16316524, 25729976, 25903641, 28204945, 28392951). ClinVar contains an entry for this variant (Variation ID: 556151). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.

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